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Phenotypes Associated with This Genotype
Genotype
MGI:3623518
Allelic
Composition
Prf1tm1Sdz/Prf1tm1Sdz
Genetic
Background
NOD.B6-Prf1tm1Sdz
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prf1tm1Sdz mutation (10 available); any Prf1 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• after cyclophosphamide treatment, perforin-null NOD mice display temporary hyperglycemia but return to normoglycemia while control NOD mice become hyperglycemic and often die as a result
• cyclophosphamide treatment of 8-12 week old NOD control and perforin-heterozygous NOD mice on day 0 and 12 induces diabetes at an incidence of 80-90% after the second treatment between 24 and 30 days, while diabetes occurs in 18% of homozygous NOD mutants between 32 and 38 days

endocrine/exocrine glands
• diabetic perforin-null mice have a drastically reduced volume density of endocrine islet tissue (beta cells) compared with 7-week old control NOD mice
• at 8 weeks of age, insulitis is seen to varying degrees in perforin-null and heterozygous mice; by 55 weeks of age, in non-diabetic null mice, severe insulitis develops with a higher frequency than in perforin-expressing NOD controls
• periinsulitis is observed in 8-week old perforin-null and heterozygous mice with little islet cell damage, compared to detection at 5 weeks in control NOD mice

immune system
• at 8 weeks of age, insulitis is seen to varying degrees in perforin-null and heterozygous mice; by 55 weeks of age, in non-diabetic null mice, severe insulitis develops with a higher frequency than in perforin-expressing NOD controls
• periinsulitis is observed in 8-week old perforin-null and heterozygous mice with little islet cell damage, compared to detection at 5 weeks in control NOD mice
• female perforin-null NOD mice show significantly decrease incidence of diabetes (16%) with a delayed onset between 35 and 41 weeks, while control NOD mice, diabetes occurred between 15 and 30 weeks of age with an incidence of 77%; male control NOD mice show less than 20% incidence of diabetes, while no null NOD mice develop diabetes


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory